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Comprehensive Analysis of TEK Variants in Patients With Vascular Malformations
Reza Ghasemi1, Meagan M Corliss1, Kevin M Bowling1
1Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, USA.
Clinical Genetics
|December 4, 2024
Summary
Pathogenic TEK gene variants cause vascular malformations (VMs). This study comprehensively analyzed 107 TEK variants in 88 VM cases, identifying novel mutations and distinct variant patterns.
Area of Science:
- Genetics
- Molecular Biology
- Medical Science
Background:
- Vascular malformations (VMs) are often caused by pathogenic variants in the TIE2 receptor tyrosine kinase gene (TEK).
- Understanding these TEK variants is crucial for diagnosing and potentially treating VMs.
Purpose of the Study:
- To comprehensively analyze clinically significant TEK variants identified in patients with vascular malformations.
- To characterize the distribution and patterns of these TEK variants.
Main Methods:
- Retrospective review of deidentified clinical next-generation sequencing (NGS) data from 88 VM cases.
- Identification and classification of 107 clinically significant TEK variants, including novel mutations.
Main Results:
- Identified 107 clinically significant TEK variants in 88 VM cases, including 23 unique amino acid variants (5 novel).
- Missense variants were concentrated in the tyrosine kinase domain, while nonsense/frameshift variants were in the C-terminal tail (CTT).
- Observed distinct patterns of variant co-occurrence and solitary alterations, including five defined patterns (P1-P5).
Conclusions:
- This study provides the most extensive overview of pathogenic TEK variants associated with VMs to date.
- The identified variant patterns offer insights into the molecular mechanisms underlying TEK-related vascular malformations.
